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Hereditary fructose intolerance
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Reviewed June 2011
What is hereditary fructose intolerance?
Hereditary fructose intolerance is a condition that affects a person's ability to digest the sugar fructose. Fructose is a simple sugar found primarily in fruits. Affected individuals develop signs and symptoms of the disorder in infancy when fruits, juices, or other foods containing fructose are introduced into the diet. After ingesting fructose, individuals with hereditary fructose intolerance may experience nausea, bloating, abdominal pain, diarrhea, vomiting, and low blood sugar (hypoglycemia). Affected infants may fail to grow and gain weight at the expected rate (failure to thrive).
Repeated ingestion of fructose-containing foods can lead to liver and kidney damage. The liver damage can result in a yellowing of the skin and whites of the eyes (jaundice), an enlarged liver (hepatomegaly), and chronic liver disease (cirrhosis). Continued exposure to fructose may result in seizures, coma, and ultimately death from liver and kidney failure. Due to the severity of symptoms experienced when fructose is ingested, most people with hereditary fructose intolerance develop a dislike for fruits, juices, and other foods containing fructose.
Hereditary fructose intolerance should not be confused with a condition called fructose malabsorption. In people with fructose malabsorption, the cells of the intestine cannot absorb fructose normally, leading to bloating, diarrhea or constipation, flatulence, and stomach pain. Fructose malabsorption is thought to affect approximately 40 percent of individuals in the Western hemisphere; its cause is unknown.
How common is hereditary fructose intolerance?
The incidence of hereditary fructose intolerance is estimated to be 1 in 20,000 to 30,000 individuals each year worldwide.
What genes are related to hereditary fructose intolerance?
Mutations in the ALDOB gene cause hereditary fructose intolerance. The ALDOB gene provides instructions for making the aldolase B enzyme. This enzyme is found primarily in the liver and is involved in the breakdown (metabolism) of fructose so this sugar can be used as energy. Aldolase B is responsible for the second step in the metabolism of fructose, which breaks down the molecule fructose-1-phosphate into other molecules called glyceraldehyde and dihydroxyacetone phosphate.
ALDOB gene mutations reduce the function of the enzyme, impairing its ability to metabolize fructose. A lack of functional aldolase B results in an accumulation of fructose-1-phosphate in liver cells. This buildup is toxic, resulting in the death of liver cells over time. In addition, the molecules produced from the breakdown of fructose-1-phosphate are needed in the body. The breakdown of dihydroxyacetone phosphate releases a phosphate group (a cluster of oxygen and phosphorus atoms) from this molecule. Phosphate groups are used for a number of cell processes, including the production of adenosine triphosphate (ATP), the cell's main energy source, and the release of stored sugar in the liver. Lack of functional aldolase B enzyme reduces the amount of dihydroxyacetone phosphate, leading to fewer phosphate groups available for use in the body. The death of liver cells and reduced number of phosphate groups lead to hypoglycemia, liver dysfunction, and other features of hereditary fructose intolerance.
Read more about the ALDOB gene.
How do people inherit hereditary fructose intolerance?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Where can I find information about diagnosis or management of hereditary fructose intolerance?
These resources address the diagnosis or management of hereditary fructose intolerance and may include treatment providers.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
Where can I find additional information about hereditary fructose intolerance?
You may find the following resources about hereditary fructose intolerance helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for hereditary fructose intolerance?
What if I still have specific questions about hereditary fructose intolerance?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding hereditary fructose intolerance?
adenosine triphosphate ; ATP ; autosomal ; autosomal recessive ; cell ; chronic ; cirrhosis ; coma ; constipation ; deficiency ; enzyme ; failure to thrive ; gene ; gluconeogenesis ; hypoglycemia ; incidence ; intestine ; jaundice ; kidney ; malabsorption ; metabolism ; molecule ; oxygen ; phosphate ; phosphorus ; recessive ; simple sugar ; stomach ; toxic
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (4 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.